Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20317 | 61174;61175;61176 | chr2:178590776;178590775;178590774 | chr2:179455503;179455502;179455501 |
| N2AB | 18676 | 56251;56252;56253 | chr2:178590776;178590775;178590774 | chr2:179455503;179455502;179455501 |
| N2A | 17749 | 53470;53471;53472 | chr2:178590776;178590775;178590774 | chr2:179455503;179455502;179455501 |
| N2B | 11252 | 33979;33980;33981 | chr2:178590776;178590775;178590774 | chr2:179455503;179455502;179455501 |
| Novex-1 | 11377 | 34354;34355;34356 | chr2:178590776;178590775;178590774 | chr2:179455503;179455502;179455501 |
| Novex-2 | 11444 | 34555;34556;34557 | chr2:178590776;178590775;178590774 | chr2:179455503;179455502;179455501 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.753 | 0.633 | 0.813802140646 | gnomAD-4.0.0 | 6.87377E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03617E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9892 | likely_pathogenic | 0.9907 | pathogenic | -2.875 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/C | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.554056154 | None | None | N |
| W/D | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/E | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| W/F | 0.7806 | likely_pathogenic | 0.7441 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| W/G | 0.9697 | likely_pathogenic | 0.9729 | pathogenic | -3.061 | Highly Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.541685891 | None | None | N |
| W/H | 0.9923 | likely_pathogenic | 0.9907 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/I | 0.9862 | likely_pathogenic | 0.9885 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/L | 0.9648 | likely_pathogenic | 0.968 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.673 | neutral | D | 0.529404533 | None | None | N |
| W/M | 0.9887 | likely_pathogenic | 0.9893 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/N | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| W/P | 0.9927 | likely_pathogenic | 0.993 | pathogenic | -2.445 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| W/Q | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.553549175 | None | None | N |
| W/S | 0.9871 | likely_pathogenic | 0.9879 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.519427352 | None | None | N |
| W/T | 0.9896 | likely_pathogenic | 0.9909 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/V | 0.9867 | likely_pathogenic | 0.988 | pathogenic | -2.445 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/Y | 0.8835 | likely_pathogenic | 0.8646 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.